Norcholic acid is a bile acid and 23-carbon derivative of cholic acid .1 Levels of norcholic acid are increased in the urine of patients with liver cirrhosis or cerebrotendinous xanthomatosis (CTX), an inborn error of metabolism characterized by a deficiency in the mitochondrial enzyme sterol 27-hydrolylase (CYP27A1) that leads to progressive neurological symptoms.2,3,4
1.Nakatomi, F., Kihira, K., Kuramoto, T., et al.Intestinal absorption and metabolism of norcholic acid in ratsJ. Pharmacobiodyn8(7)557-563(1985) 2.Bremmelgaard, A., and SjÖvall, J.Bile acid profiles in urine of patients with liver diseasesEur. J. Clin. Invest.9(5)341-348(1979) 3.Kuramoto, T., Furukawa, Y., Nishina, T., et al.Identification of short side chain bile acids in urine of patients with cerebrotendinous xanthomatosisJ. Lipid Res.101895-1902(1990) 4.Pilo de la Fuente, B., Sobrido, M.J., GirÓs, M., et al.Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosisNeurologia26(7)397-404(2011)